Journal article

A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITY SUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY

DR THORBURN, GN THOMPSON, DW HOWELLS

JOURNAL OF INHERITED METABOLIC DISEASE | KLUWER ACADEMIC PUBL | Published : 1993

Abstract

Succinic semialdehyde dehydrogenase (SSAD) is an enzyme involved in the turnover of the neurotransmitter 4-aminobutyrate (GABA). Deficiency of SSAD results in developmental delay, ataxia, seizures and 4-hydroxybutyric aciduria. We have developed a simple fluorimetric assay for the enzyme and applied it to measurement of SSAD activity in a range of cell types often used for prenatal and postnatal diagnosis of enzyme defects. Lymphocytes from children with SSAD deficiency were found to have < 5% of the activity found in lymphocytes from normal children. Heterozygotes are asymptomatic and have intermediate enzyme activities. Although SSAD activity has been detected previously in uncultured chor..

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